Results 51 to 60 of about 8,653,094 (351)
The genetic basis of classical galactosaemia in Polish patients
Orphanet Journal of Rare Diseases, 2021 Classic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13. Its diagnosis is established
Aleksandra Jezela-Stanek +5 more
doaj +1 more source
Fucosidosis: clinical and molecular findings of Turkish patients
The Turkish Journal of Pediatrics, 2022 Background. Fucosidosis is a rare, autosomal recessive lysosomal storage disease caused by alpha L- fucosidase enzyme deficiency in all tissues. Here, we identify a patient with a novel homozygous pathogenic variant and atypical clinical findings ...
Merve Emecen Şanlı, Serap Uysal
doaj +1 more source
, 2011 Overview: Time of Death: 5:07 p.m. – Proceeding the solemn afternoon of February 22nd 2003, the Santillian family listened on as doctors told them that their cherished loved one was officially pronounced brain dead and would soon have to be taken off ...
Spall, Jennifer
core +1 more source
FEBS Letters, EarlyView.Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi +5 more
wiley +1 more source
Evaluation of visual functions in Iranian hypothyroid adults
Endocrinology, Diabetes & Metabolism, 2023 Introduction The aim of this study was to investigate the effects of hypothyroidism on visual functions such as visual acuity, refractive errors, colour vision, and contrast sensitivity, among hypothyroid adults.
Somayyeh Boomi Quchan Atigh +5 more
doaj +1 more source
Role of empathy in the perception of medical errors in patient encounters: a preliminary study
BMC Research Notes, 2019 Healthcare professionals’ empathy have been empirically demonstrated to decrease the risk of medical errors. Medical errors affect patient’s outcomes and healthcare providers’ well-being.
J. Hannan +9 more
semanticscholar +1 more source
FEBS Letters, EarlyView.Atovaquone is an antimalarial requiring potentiation for sufficient efficacy. We pursued strategies to enhance its activity, showing that 4‐nitrobenzoate inhibits 4‐hydroxybenzoate polyprenyltransferase, decreasing ubiquinone biosynthesis. Since atovaquone competes with ubiquinol in mitochondria, 4‐nitrobenzoate facilitates its action, potentiating ...
Ignasi Bofill Verdaguer +7 more
wiley +1 more source
Orphanet Journal of Rare DiseasesBackground Inborn errors of metabolism (IEMs) are rare disorders that are heterogeneous in severity and clinical presentation. Patients with IEMs should receive the vaccination schedule recommended for the whole population, and specific vaccinations ...
Anne-Sophie Renous +11 more
doaj +1 more source
FEBS Letters, EarlyView.Cells must clear mislocalized or faulty proteins from membranes to survive. The AAA+ ATPase Msp1 performs this task, but dissecting how its six subunits work together is challenging. We engineered linked dimers with varied numbers of functional subunits to reveal how Msp1 subunits cooperate and use energy to extract proteins from the lipid bilayer ...
Deepika Gaur +5 more
wiley +1 more source
Rad27/FEN1 prevents accumulation of Okazaki fragments and ribosomal DNA copy number changes
FEBS Letters, EarlyView.The budding yeast Rad27 is a structure‐specific endonuclease. Here, the authors reveal that Rad27 is crucial for maintaining the stability of the ribosomal RNA gene (rDNA) region. Rad27 deficiency leads to the accumulation of Okazaki fragments and changes in rDNA copy number.
Tsugumi Yamaji +3 more
wiley +1 more source